Identification of Mutations in PARK8, a Locus for Familial Parkinson's Disease

Reference #:

2004-185

Inventors/Contributors

Matthew J. Farrer Ph.D., Jennifer M. Kachergus, Sarah J. Lincoln, Mary M. Hulihan, Zbigniew K. Wszolek M.D., Ryan J. Uitti M.D.

Description

Discovery of the genetic cause of clinical, late-onset (typical) Parkinson's disease in multiple families with an autosomal pattern of disease inheritance. Six coding mutations have now been identified within eight families, in a novel gene that is comprised of 61 exons (alternately spliced) that encodes a protein of ~280kD. The gene is located on chromosome 12p11.2-q13.1 and is responsible for disease linked to PARK8 (OMIM % 607060).

Patent Status

Pending